Baylock, B

Butow, P

Hallowell, N

Heiniger, L

Price, M

English

PubMed

G Kurzawski

D Dymerska

J Suchy

T Dębniak

J Lubiński

Springer - Publisher Connector

MEETING ABSTRACT Open Access
Fast diagnostic test for the identification of an
increased genetic predisposition to colon cancer
(exemplified on a DNA test for recurrent
mutations of the gene MMR)
G Kurzawski*, D Dymerska, J Suchy, T Dębniak, J Lubiński
From Annual Conference on Hereditary Cancers 2010
Szczecin, Poland. 10-11 December 2010
Hereditary nonpolyposis colorectal cancer (Lynch Syn-
drome, LS) is a genetic disorder, where family members
are at high risk of developing cancer of the colon, endo-
metrium, small intestine and urinary tract. The cause
for LS is due to constitutional mutations in several mis-
match repair genes (MMR) mainly in MLH1, MSH2 and
MSH6.
The Polish population has been well characterized by
a large study comprising ~1000 LS-suspected families.
Most nucleotide substitutions (about 90%) were discov-
ered mainly by DHPLC (denaturing high-performance
liquid chromatography) or sequencing, whereas deletion
of one or more exons (about 10% of all mutations) were
detected mainly by MLPA (multiplex ligation-dependent
probe amplification) [1,2].
Over 60% families of the former study, which were
affected by recurrent MMR mutations, were taken as a
basis to design the following iPLEX/TaqMan test, that
allows simultaneous testing of almost all recurrent
mutations in only analysis [3] .
The drawback of this kind of analysis are the high
costs of the machines (Sequenom), for which a reason-
able cost-effectiveness is achieved only for large series of
probes. Thus the approach is convenient only for high-
throughput laboratories.
However the present approach is cost-effective even
for testing individual patients. The present test, based
on a Taqman PCR analysis, allows a fast identification
of the 20 most frequent mutations of the genes MLH1
and MSH2. An analogous test for recurrent mutations
of the gene APC could, in a similar way, accelerate the
molecular diagnostic of predisposition to FAP.
Published: 12 January 2012
References
1. Kurzawski G, et al: Germline MSH2 and MSH1 mutational spectrum
including large rearrangements in HNPCC families from Poland (update
study). Clinical Genetics 2006, 69:40-47.
2. Suchy J, et al: Frequency and nature of hMSH6 germline mutations in
Polish patients with colorectal, endometrial and ovarian cancers. Clin.
Genet 2006, 70:68-70.
3. Dymerska D, et al: Combined iPLEX and TaqMan assays to screen for 45
common mutations in Lynch syndrome and FAP patients. J Mol Diag
2010, 12:82-90.
doi:10.1186/1897-4287-10-S1-A13
Cite this article as: Kurzawski et al.: Fast diagnostic test for the
identification of an increased genetic predisposition to colon cancer
(exemplified on a DNA test for recurrent mutations of the gene MMR).
Hereditary Cancer in Clinical Practice 2012 10(Suppl 1):A13.
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* Correspondence: gkurz@sci.pam.szczecin.pl
International Hereditary Cancer Center, Pomeranian Medical University,
Szczecin, Poland
Kurzawski et al. Hereditary Cancer in Clinical Practice 2012, 10(Suppl 1):A13
http://www.hccpjournal.com/content/10/S1/A13
© 2012 Kurzawski et al; licensee BioMed Central Ltd. This is an open access article distributed under the terms of the Creative
Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and
reproduction in any medium, provided the original work is properly cited.


Fast diagnostic test for the identification of an increased genetic predisposition to colon cancer (exemplified on a DNA test for recurrent mutations of the gene MMR)

Kurzawski G

Dymerska D

Suchy J

Dębniak T

Lubiński J

Directory of Open Access Journals

Hereditary Cancer in Clinical Practice

Crossref

al: Frequency and nature of hMSH6 germline mutations in Polish patients with colorectal, endometrial and ovarian cancers.

Combined iPLEX and TaqMan assays to screen for 45 common mutations in Lynch syndrome and FAP patients.

Germline MSH2 and MSH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study). Clinical Genetics

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